U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    BAP1 BRCA1 associated protein 1 [ Homo sapiens (human) ]

    Gene ID: 8314, updated on 17-Jun-2024

    Summary

    Official Symbol
    BAP1provided by HGNC
    Official Full Name
    BRCA1 associated protein 1provided by HGNC
    Primary source
    HGNC:HGNC:950
    See related
    Ensembl:ENSG00000163930 MIM:603089; AllianceGenome:HGNC:950
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    UBM2; UVM2; KURIS; TPDS1; UCHL2; hucep-6; HUCEP-13
    Summary
    This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]
    Expression
    Ubiquitous expression in testis (RPKM 47.8), skin (RPKM 26.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BAP1 in Genome Data Viewer
    Location:
    3p21.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (52401008..52410008, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52433990..52442989, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52435024..52444024, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52332967-52333837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52333838-52334707 Neighboring gene glycerate kinase Neighboring gene microRNA 135a-1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52344635-52345552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52350849-52351787 Neighboring gene dynein axonemal heavy chain 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52377569-52378070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52385639-52386434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52396307-52396860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14440 Neighboring gene protein phosphatase 2 regulatory subunit B'gamma pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:52443144-52443692 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:52443693-52444241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19941 Neighboring gene VISTA enhancer hs2179 Neighboring gene PHD finger protein 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52471583-52472088 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52478216-52479092 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52479093-52479969 Neighboring gene semaphorin 3G

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    BAP1-related tumor predisposition syndrome Compare labs
    Kury-Isidor syndrome
    MedGen: C5676925 OMIM: 619762 GeneReviews: Not available
    Compare labs
    Melanoma, uveal, susceptibility to, 2
    MedGen: C1847723 OMIM: 606661 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-12-27)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2019-12-27)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ35406, FLJ37180, KIAA0272, DKFZp686N04275

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cysteine-type deubiquitinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cysteine-type deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cysteine-type deubiquitinase activity TAS
    Traceable Author Statement
    more info
     
    enables histone H2A deubiquitinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables peptidase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in common myeloid progenitor cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in erythrocyte maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hematopoietic stem cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in leukocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in macrophage homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoubiquitinated protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in myeloid cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in neuron cellular homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neutrophil differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nucleate erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in platelet morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein targeting to mitochondrion HMP PubMed 
    involved_in protein K48-linked deubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein deubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein modification process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cytokine production involved in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to inorganic substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in thrombocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tissue homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of PR-DUB complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of PR-DUB complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ubiquitin carboxyl-terminal hydrolase BAP1
    Names
    BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
    cerebral protein 6
    cerebral protein-13
    NP_001397701.1
    NP_004647.1
    XP_011532451.1
    XP_011532452.1
    XP_011532453.1
    XP_011532454.1
    XP_047305000.1
    XP_054204030.1
    XP_054204031.1
    XP_054204032.1
    XP_054204033.1
    XP_054204034.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_031859.1 RefSeqGene

      Range
      4889..13990
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_529

    mRNA and Protein(s)

    1. NM_001410772.1NP_001397701.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC092045
      Consensus CDS
      CCDS93284.1
      UniProtKB/TrEMBL
      F8W6N3
      Related
      ENSP00000296288.5, ENST00000296288.9
    2. NM_004656.4NP_004647.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform 1

      See identical proteins and their annotated locations for NP_004647.1

      Status: REVIEWED

      Source sequence(s)
      AK292608, AY130008
      Consensus CDS
      CCDS2853.1
      UniProtKB/Swiss-Prot
      A8K993, Q6LEM0, Q7Z5E8, Q92560
      Related
      ENSP00000417132.1, ENST00000460680.6
      Conserved Domains (1) summary
      cd09617
      Location:5233
      Peptidase_C12_UCH37_BAP1; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families UCH37 (UCH-L5) and BAP1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      52401008..52410008 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449044.1XP_047305000.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X5

    2. XM_011534151.4XP_011532453.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X3

      Conserved Domains (1) summary
      cd09617
      Location:5223
      Peptidase_C12_UCH37_BAP1; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families UCH37 (UCH-L5) and BAP1
    3. XM_011534152.3XP_011532454.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X4

      Conserved Domains (1) summary
      cd09617
      Location:5233
      Peptidase_C12_UCH37_BAP1; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families UCH37 (UCH-L5) and BAP1
    4. XM_011534150.4XP_011532452.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X2

      Conserved Domains (1) summary
      cd09617
      Location:5233
      Peptidase_C12_UCH37_BAP1; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families UCH37 (UCH-L5) and BAP1
    5. XM_011534149.4XP_011532451.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X1

      Conserved Domains (1) summary
      cd09617
      Location:5233
      Peptidase_C12_UCH37_BAP1; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families UCH37 (UCH-L5) and BAP1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      52433990..52442989 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348059.1XP_054204034.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X5

    2. XM_054348057.1XP_054204032.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X3

    3. XM_054348058.1XP_054204033.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X4

    4. XM_054348056.1XP_054204031.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X2

    5. XM_054348055.1XP_054204030.1  ubiquitin carboxyl-terminal hydrolase BAP1 isoform X1